Living With Conditions Newborn Screening is Key

In 2011, after a ~6 months diagnostic journey, our older two sons were diagnosed with a rare genetic disease called Mucopolysaccharidosis Type II (MPS II, aka Hunter Syndrome). A single point mutation caused a key lysosomal enzyme to be non-functional. As a result, large sugar molecules accumulate in all of their body tissues, leading to organ malfunctions, developmental delay, and eventual premature death. Diagnosed around the same time at the age of 4 and 1, both boys have undergone about eight years of weekly enzyme replacement treatment with the younger boy faring much better than his elder brother, both physically and developmentally. Now 9 years old, his developmental age is roughly at 5-6, while his elder brother, now 12 years old, has never surpassed the developmental age of 3. One key reason for the difference is attributed to his early start of treatment at the asymptomatic stage with limited physical and neurological damages, but he wouldn't have been diagnosed if not for his elder brother’s diagnosis. Imagine if they were both diagnosed as newborns and were treated immediately.

Early diagnosis and treatment at the asymptomatic stage are critical to improved treatment efficacy and outcome for hundreds of devastating genetic diseases like the Hunter Syndrome that already have FDA approved treatments. Newborn screening is the key to systemically identify affected babies at the earliest possible time points for intervention. The ailment by MPS and other debilitating genetic diseases can be heartbreaking, but together we can make them much more manageable and eventually curable in the future.

By Mike Hu

Find more information about Mucopolysaccharidosis Type-II

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